Early development of hyperparathyroidism due to loss of PTH transcriptional repression in patients with HNF1/β mutations?

Journal of Clinical Endocrinology and Metabolism

Volumn 98, Issue 10, 2013, Pages 4089-4096

  Ferrè, Silvia ^a   Bongers, Ernie M H F ^a   Sonneveld, Ramon ^b   Cornelissen, Elisabeth A M ^b   Van Der Vlag, Johan ^b   Van Boekel, Gerben A J ^b   Wetzels, Jack F M ^b   Hoenderop, Joost G J ^a   Bindels, René J M ^a   Nijenhuis, Tom ^b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

HEPATOCYTE NUCLEAR FACTOR 1BETA; PARATHYROID HORMONE;

ADOLESCENT; ADULT; ARTICLE; BINDING SITE; CELL STRAIN HEK293; CHILD; CHROMATIN IMMUNOPRECIPITATION; CLINICAL ARTICLE; CONTROLLED STUDY; CREATININE CLEARANCE; FEMALE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GLOMERULUS FILTRATION RATE; HETEROZYGOTE; HNF1BETA GENE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERPARATHYROIDISM; IMMUNOHISTOCHEMISTRY; INFANT; MALE; NUCLEOTIDE SEQUENCE; PARATHYROID GLAND; PARATHYROID HORMONE BLOOD LEVEL; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; PTH GENE; REAL TIME POLYMERASE CHAIN REACTION; REPORTER GENE; RETROSPECTIVE STUDY; SCHOOL CHILD; TRANSCRIPTION INITIATION SITE; TRANSCRIPTION REGULATION;

ADOLESCENT; ADULT; CHILD; FEMALE; GENE EXPRESSION REGULATION; HEK293 CELLS; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; HYPERPARATHYROIDISM; INFANT; MALE; MIDDLE AGED; MUTATION; PARATHYROID GLANDS; PARATHYROID HORMONE; PROMOTER REGIONS, GENETIC; TRANSCRIPTION, GENETIC;

EID: 84885200130     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2012-3453     Document Type: Article

References (38)

1. Habener JF, Rosenblatt M, Potts JT Jr. Parathyroid hormone: biochemical aspects of biosynthesis, secretion, action, and metabolism. Physiol Rev. 1984; 64: 985-1053.
2. Kumar R, Thompson JR The regulation of parathyroid hormone secretion and synthesis. J Am Soc Nephrol. 2011; 22: 216-224.
3. Hoenderop JG, van der Kemp AW, Urben CM, Strugnell SA, Bindels RJ. Effects of vitamin D compounds on renal and intestinal Ca2+ transport proteins in 25-hydroxyvitamin D3-1 α-hydroxylase knockout mice. Kidney Int. 2004; 66: 1082-1089.
4. Kawahara M, Iwasaki Y, Sakaguchi K., et al Involvement of GCMB in the transcriptional regulation of the human parathyroid hormone gene in a parathyroid-derived cell line PT-r: effects of calcium and 1, 25(OH)2D3. Bone. 2010; 47: 534-541.
5. Kawahara M, Iwasaki Y, Sakaguchi K., et al Predominant role of 25OHD in the negative regulation of PTH expression: clinical relevance for hypovitaminosis D. Life Sci. 2008; 82: 677-683.
6. 3 of transcription of the pre-proparathyroid hormone gene. Endocrinology. 1986; 119: 2864-2866.
7. Ben-Dov I.Z., Galitzer H, Lavi-Moshayoff V, et al The parathyroid is a target organ for FGF23 in rats. J Clin Invest. 2007; 117: 4003-4008.
8. Krajisnik T, Björklund P, Marsell R., et al Fibroblast growth factor-23 regulates parathyroid hormone and 1 α-hydroxylase expression in cultured bovine parathyroid cells. J Endocrinol. 2007; 195: 125-131.
9. Alimov AP, Park-Sarge OK, Sarge K.D., Malluche HH, Koszewski NJ Trans-activation of the parathyroid hormone promoter by specificity proteins and the nuclear factor Y complex. Endocrinology. 2005; 146: 3409-3416.
10. Koszewski NJ, Alimov AP, Park-Sarge OK, Malluche HH Suppression of the human parathyroid hormone promoter by vitamin D involves displacement of NF-Y binding to the vitamin D response element. J Biol Chem. 2004; 279: 42431-42437.
11. Barbacci E, Reber M, Ott M.O., Breillat C., Huetz F, Cereghini S. Variant hepatocyte nuclear factor 1 is required for visceral endoderm specification. Development. 1999; 126: 4795-4805.
12. Faguer S, Decramer S, Chassaing N., et al Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood. Kidney Int. 2011; 80: 768-776.
13. Gong Y, Ma Z, Patel V., et al HNF-1β regulates transcription of the PKD modifier gene Kif12. J Am Soc Nephrol. 2009; 20: 41-47.
14. Hiesberger T, Bai Y, Shao X., et al Mutation of hepatocyte nuclear factor-1β inhibits Pkhd1 gene expression and produces renal cysts in mice. J Clin Invest. 2004; 113: 814-825.
15. Gresh L, Fischer E, Reimann A., et al A transcriptional network in polycystic kidney disease. EMBO J. 2004; 23: 1657-1668.
16. Kikuchi R, Kusuhara H, Hattori N., et al Regulation of tissue-specific expression of the human and mouse urate transporter 1 gene by hepatocyte nuclear factor 1 α/β and DNA methylation. Mol Pharmacol. 2007; 72: 1619-1625.
17. Kikuchi R, Kusuhara H, Hattori N., et al Regulation of the expression of human organic anion transporter 3 by hepatocyte nuclear factor 1α/β and DNA methylation. Mol Pharmacol. 2006; 70: 887-896.
18. Adalat S, Woolf AS, Johnstone K.A., et al HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. J Am Soc Nephrol. 2009; 20: 1123-1131.
19. Reber M, Cereghini S. Variant hepatocyte nuclear factor 1 expression in the mouse genital tract. Mech Dev. 2001; 100: 75-78.
20. Bingham C, Bulman MP, Ellard S, et al Mutations in the hepatocyte nuclear factor-1β gene are associated with familial hypoplastic glomeru-locystic kidney disease. Am J Hum Genet. 2001; 68: 219-224.
21. Bach I, Mattei MG, Cereghini S, Yaniv M. Two members of an HNF1 homeoprotein family are expressed in human liver. Nucleic Acids Res. 1991; 19: 3553-3559.
22. Haumaitre C, Barbacci E, Jenny M., Ott MO, Gradwohl G, Cereghini S. Lack of TCF2/vHNF1 in mice leads to pancreas agenesis. Proc Natl Acad Sci USA. 2005; 102: 1490-1495.
23. +-ATPase. Biochem Biophys Res Commun. 2011; 404: 284-290.
24. Demay MB, Kiernan MS, De Luca HF, Kronenberg HM. Sequences in the human parathyroid hormone gene that bind the 1, 25-dihydroxyvitamin D3 receptor and mediate transcriptional repression in response to 1, 25-dihydroxyvitamin D3. Proc Natl Acad Sci USA. 1992; 89: 8097-8101.
25. Senkel S, Lucas B, Klein-Hitpass L, Ryffel GU Identification of target genes of the transcription factor HNF1β and HNF1α in a human embryonic kidney cell line. Biochim Biophys Acta. 2005; 1731: 179-190.
26. Brown EM. Clinical utility of calcimimetics targeting the extracellular calcium-sensing receptor (CaSR). Biochem Pharmacol. 2010; 80: 297-307.
27. Shoben AB, Rudser KD, de Boer IH, Young B, Kestenbaum B. Association of oral calcitriol with improved survival in nondialyzed CKD. J Am Soc Nephrol. 2008; 19: 1613-1619.
28. Locatelli F, Cannata-Andía JB, Drüeke TB, et al. Management of disturbances of calcium and phosphate metabolism in chronic renal insufficiency, with emphasis on the control of hyperphosphataemia. Nephrol Dial Transplant. 2002; 17: 723-731.
29. Moe SM, Drüeke TB. Management of secondary hyperparathyroidism: the importance and the challenge of controlling parathyroid hormone levels without elevating calcium, phosphorus, and calcium-phosphorus product. Am J Nephrol. 2003; 23: 369-379.
30. Urakawa I, Yamazaki Y, Shimada T., et al Klotho converts canonical FGF receptor into a specific receptor for FGF23. Nature. 2006; 444: 770-774.
31. Kuroo M, Matsumura Y., Aizawa H, et al Mutation of the mouse klotho gene leads to a syndrome resembling ageing. Nature. 1997; 390: 45-51.
32. Lokmane L, Haumaitre C, Garcia-Villalba P, Anselme I., Schneider-Maunoury S, Cereghini S. Crucial role of vHNF1 in vertebrate hepatic specification. Development. 2008; 135: 2777-2786.
33. Song J, Kim HJ, Gong Z, Liu N.A., Lin S. Vhnf1 acts downstream of Bmp, Fgf, and RA signals to regulate endocrine β-cell development in zebrafish. Dev Biol. 2007; 303: 561-575.
34. Wiellette EL, Sive H. vhnf1 and Fgf signals synergize to specify rhom-bomere identity in the zebrafish hindbrain. Development. 2003; 130: 3821-3829.
35. Hernandez RE, Rikhof HA, Bachmann R, Moens CB vhnf1 integrates global RA patterning and local FGF signals to direct posterior hindbrain development in zebrafish. Development. 2004; 131: 4511-4520.
36. Xu X, Browning VL, Odorico JS Activin, BMP and FGF pathways cooperate to promote endoderm and pancreatic lineage cell differentiation from human embryonic stem cells. Mech Dev. 2011; 128: 412-427.
37. Imura A, Tsuji Y, Murata M., et al α-Klotho as a regulator of calcium homeostasis. Science. 2007; 316: 1615-1618.
38. Floyd RV, Wray S, Martín-Vasallo P, Mobasheri A. Differential cellular expression of FXYD1 (phospholemman) and FXYD2 (gamma subunit of Na, K-ATPase) in normal human tissues: a study using high density human tissue microarrays. Ann Anat. 2010; 192: 7-16.